Researchers Identify Novel Genetic Variants Associated with Alzheimer’s Disease
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Identifying genetic variants and the role they play in predisposing people to Alzheimer’s disease can help researchers better understand how to treat the neurodegenerative condition for which there is currently no cure. A new study led by the Boston University School of Public Health and UTHealth Houston School of Public Health has identified several genetic variants that may influence Alzheimer’s disease risk, putting researchers one step closer to uncovering biological pathways to target for future treatment and prevention.
Published in the journal Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association, the study utilized whole genome sequencing and identified 17 significant variants associated with Alzheimer’s disease in five genomic regions. This data enables researchers to pinpoint rare and important genes and variants, building upon genome-wide association studies, which focus only on common variants and regions.
The findings underscore the value of whole genome sequencing data in gaining long-sought insight into the ultimate causes and risk factors for Alzheimer’s disease, which is the fifth-leading cause of death among people 65 and older in the United States. As the most common form of dementia, Alzheimer’s disease currently affects more than 6 million Americans and that number is expected to skyrocket to nearly 13 million by 2050.
“Prior genome-wide association studies using common variants have identified regions of the genome, and sometimes genes, that are associated with Alzheimer’s disease,” says study co-senior author Anita DeStefano, professor of biostatistics. “Whole genome sequence data interrogates every base pair in the human genome and can provide more information about which specific genetic change in a region may be contributing to Alzheimer’s disease risk or protection.”
Read more about the study here.